Incidental Mutation 'IGL03061:Snx19'
ID |
409462 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Snx19
|
Ensembl Gene |
ENSMUSG00000031993 |
Gene Name |
sorting nexin 19 |
Synonyms |
3526401K03Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.107)
|
Stock # |
IGL03061
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
30338404-30378029 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 30344928 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Isoleucine
at position 676
(F676I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000131895
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164099]
[ENSMUST00000216545]
|
AlphaFold |
Q6P4T1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000164099
AA Change: F676I
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000131895 Gene: ENSMUSG00000031993 AA Change: F676I
Domain | Start | End | E-Value | Type |
transmembrane domain
|
29 |
46 |
N/A |
INTRINSIC |
transmembrane domain
|
51 |
73 |
N/A |
INTRINSIC |
Pfam:PXA
|
96 |
269 |
2.9e-43 |
PFAM |
low complexity region
|
324 |
335 |
N/A |
INTRINSIC |
low complexity region
|
371 |
385 |
N/A |
INTRINSIC |
low complexity region
|
504 |
528 |
N/A |
INTRINSIC |
PX
|
533 |
664 |
1.83e-24 |
SMART |
Pfam:Nexin_C
|
843 |
951 |
1.9e-23 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000216545
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216552
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Islet antigen-2 (IA-2) is an autoantigen in type 1 diabetes and plays a role in insulin secretion. IA-2 is found in dense-core secretory vesicles and interacts with the product of this gene, a sorting nexin. In mouse pancreatic beta-cells, the encoded protein influenced insulin secretion by stabilizing the number of dense-core secretory vesicles. [provided by RefSeq, Dec 2016]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsl1 |
T |
A |
8: 46,961,374 (GRCm39) |
N106K |
probably damaging |
Het |
Ak8 |
T |
C |
2: 28,632,767 (GRCm39) |
|
probably benign |
Het |
BC016579 |
C |
T |
16: 45,449,849 (GRCm39) |
G190S |
probably damaging |
Het |
C4bp |
A |
G |
1: 130,564,454 (GRCm39) |
V410A |
probably damaging |
Het |
Cacna2d3 |
T |
C |
14: 28,780,388 (GRCm39) |
T658A |
probably damaging |
Het |
Cadps2 |
T |
C |
6: 23,287,659 (GRCm39) |
|
probably null |
Het |
Car10 |
G |
T |
11: 93,381,351 (GRCm39) |
V105F |
probably damaging |
Het |
Car15 |
C |
T |
16: 17,653,249 (GRCm39) |
C306Y |
possibly damaging |
Het |
Casr |
C |
T |
16: 36,316,250 (GRCm39) |
A530T |
probably benign |
Het |
Col5a3 |
A |
G |
9: 20,708,868 (GRCm39) |
|
probably null |
Het |
Creld1 |
A |
G |
6: 113,465,058 (GRCm39) |
E95G |
probably damaging |
Het |
Dcstamp |
T |
A |
15: 39,623,793 (GRCm39) |
D366E |
possibly damaging |
Het |
Dnah11 |
T |
C |
12: 117,866,856 (GRCm39) |
Y4095C |
probably damaging |
Het |
Eps8l2 |
A |
G |
7: 140,937,148 (GRCm39) |
|
probably benign |
Het |
Gsn |
T |
C |
2: 35,172,471 (GRCm39) |
|
probably benign |
Het |
Ifi27l2a |
T |
C |
12: 103,401,803 (GRCm39) |
V30A |
possibly damaging |
Het |
Ifit1bl2 |
C |
T |
19: 34,597,124 (GRCm39) |
R164Q |
probably benign |
Het |
Impg2 |
T |
C |
16: 56,088,779 (GRCm39) |
S1102P |
probably damaging |
Het |
Kif24 |
G |
T |
4: 41,394,323 (GRCm39) |
P984Q |
possibly damaging |
Het |
Krtap29-1 |
T |
A |
11: 99,869,455 (GRCm39) |
Q142L |
possibly damaging |
Het |
Lpar6 |
C |
T |
14: 73,476,510 (GRCm39) |
T157I |
probably benign |
Het |
Lrrc32 |
A |
T |
7: 98,148,629 (GRCm39) |
T470S |
probably benign |
Het |
Lyl1 |
C |
T |
8: 85,429,300 (GRCm39) |
P3L |
possibly damaging |
Het |
Mroh9 |
A |
T |
1: 162,854,071 (GRCm39) |
H776Q |
probably damaging |
Het |
Myh7 |
T |
C |
14: 55,228,661 (GRCm39) |
|
probably benign |
Het |
Myh7b |
A |
G |
2: 155,462,031 (GRCm39) |
N309S |
possibly damaging |
Het |
Myo5b |
A |
T |
18: 74,767,630 (GRCm39) |
T313S |
probably benign |
Het |
Myo5b |
G |
A |
18: 74,713,615 (GRCm39) |
|
probably benign |
Het |
Npas4 |
C |
T |
19: 5,036,365 (GRCm39) |
V600M |
probably damaging |
Het |
Nrxn3 |
T |
A |
12: 89,478,698 (GRCm39) |
Y557* |
probably null |
Het |
Or2aj4 |
T |
C |
16: 19,385,463 (GRCm39) |
T57A |
possibly damaging |
Het |
Or52k2 |
A |
G |
7: 102,253,946 (GRCm39) |
I128M |
probably damaging |
Het |
Or8g53 |
T |
A |
9: 39,683,458 (GRCm39) |
T213S |
probably benign |
Het |
Pcdh15 |
A |
G |
10: 74,152,843 (GRCm39) |
I383V |
probably damaging |
Het |
Pdzrn3 |
C |
A |
6: 101,128,816 (GRCm39) |
D617Y |
probably damaging |
Het |
Prodh2 |
A |
T |
7: 30,212,258 (GRCm39) |
K408* |
probably null |
Het |
Ptprs |
T |
C |
17: 56,725,830 (GRCm39) |
I1052V |
probably damaging |
Het |
Rpl14 |
T |
C |
9: 120,401,193 (GRCm39) |
V12A |
probably damaging |
Het |
Sf3a1 |
C |
T |
11: 4,125,493 (GRCm39) |
R428C |
probably damaging |
Het |
Sgsm2 |
G |
T |
11: 74,741,962 (GRCm39) |
N1009K |
probably damaging |
Het |
Slc28a2 |
A |
T |
2: 122,284,980 (GRCm39) |
I323F |
probably damaging |
Het |
Stxbp2 |
A |
T |
8: 3,691,971 (GRCm39) |
I538F |
probably benign |
Het |
Tg |
A |
C |
15: 66,543,254 (GRCm39) |
D56A |
probably damaging |
Het |
Tln1 |
G |
T |
4: 43,545,694 (GRCm39) |
A928E |
probably damaging |
Het |
Tmem94 |
T |
C |
11: 115,683,247 (GRCm39) |
S677P |
possibly damaging |
Het |
Ttc41 |
C |
A |
10: 86,572,721 (GRCm39) |
H698N |
possibly damaging |
Het |
Vcan |
T |
C |
13: 89,851,394 (GRCm39) |
T1189A |
probably benign |
Het |
Vmn1r215 |
G |
T |
13: 23,260,088 (GRCm39) |
V43F |
probably damaging |
Het |
Vmn2r28 |
A |
T |
7: 5,487,015 (GRCm39) |
N549K |
probably damaging |
Het |
Zfp598 |
T |
C |
17: 24,898,566 (GRCm39) |
V455A |
probably benign |
Het |
|
Other mutations in Snx19 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00339:Snx19
|
APN |
9 |
30,340,380 (GRCm39) |
missense |
possibly damaging |
0.92 |
IGL00498:Snx19
|
APN |
9 |
30,340,233 (GRCm39) |
missense |
possibly damaging |
0.92 |
IGL00718:Snx19
|
APN |
9 |
30,343,622 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00902:Snx19
|
APN |
9 |
30,340,028 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL01433:Snx19
|
APN |
9 |
30,340,067 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL01668:Snx19
|
APN |
9 |
30,339,119 (GRCm39) |
missense |
probably benign |
|
IGL01732:Snx19
|
APN |
9 |
30,373,649 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01767:Snx19
|
APN |
9 |
30,374,560 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL02638:Snx19
|
APN |
9 |
30,343,660 (GRCm39) |
missense |
possibly damaging |
0.52 |
IGL02718:Snx19
|
APN |
9 |
30,343,556 (GRCm39) |
missense |
possibly damaging |
0.72 |
IGL02719:Snx19
|
APN |
9 |
30,343,556 (GRCm39) |
missense |
possibly damaging |
0.72 |
IGL02723:Snx19
|
APN |
9 |
30,343,556 (GRCm39) |
missense |
possibly damaging |
0.72 |
IGL02724:Snx19
|
APN |
9 |
30,343,556 (GRCm39) |
missense |
possibly damaging |
0.72 |
IGL02725:Snx19
|
APN |
9 |
30,343,556 (GRCm39) |
missense |
possibly damaging |
0.72 |
IGL02892:Snx19
|
APN |
9 |
30,339,660 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03402:Snx19
|
APN |
9 |
30,351,430 (GRCm39) |
missense |
possibly damaging |
0.89 |
R0125:Snx19
|
UTSW |
9 |
30,351,515 (GRCm39) |
missense |
probably damaging |
1.00 |
R0133:Snx19
|
UTSW |
9 |
30,339,912 (GRCm39) |
missense |
possibly damaging |
0.94 |
R0196:Snx19
|
UTSW |
9 |
30,344,683 (GRCm39) |
missense |
probably damaging |
1.00 |
R0423:Snx19
|
UTSW |
9 |
30,347,133 (GRCm39) |
missense |
probably damaging |
1.00 |
R0635:Snx19
|
UTSW |
9 |
30,340,107 (GRCm39) |
missense |
probably damaging |
1.00 |
R0635:Snx19
|
UTSW |
9 |
30,340,106 (GRCm39) |
missense |
probably damaging |
1.00 |
R1068:Snx19
|
UTSW |
9 |
30,340,314 (GRCm39) |
missense |
probably damaging |
0.99 |
R1570:Snx19
|
UTSW |
9 |
30,339,639 (GRCm39) |
missense |
probably damaging |
1.00 |
R1727:Snx19
|
UTSW |
9 |
30,344,662 (GRCm39) |
missense |
probably damaging |
1.00 |
R1895:Snx19
|
UTSW |
9 |
30,343,620 (GRCm39) |
missense |
probably damaging |
1.00 |
R1907:Snx19
|
UTSW |
9 |
30,344,872 (GRCm39) |
missense |
probably damaging |
0.99 |
R1946:Snx19
|
UTSW |
9 |
30,343,620 (GRCm39) |
missense |
probably damaging |
1.00 |
R1989:Snx19
|
UTSW |
9 |
30,339,404 (GRCm39) |
missense |
possibly damaging |
0.93 |
R2029:Snx19
|
UTSW |
9 |
30,340,296 (GRCm39) |
missense |
probably benign |
0.01 |
R2914:Snx19
|
UTSW |
9 |
30,344,828 (GRCm39) |
unclassified |
probably benign |
|
R3880:Snx19
|
UTSW |
9 |
30,373,688 (GRCm39) |
missense |
probably damaging |
1.00 |
R4223:Snx19
|
UTSW |
9 |
30,339,744 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4415:Snx19
|
UTSW |
9 |
30,348,779 (GRCm39) |
missense |
probably damaging |
0.99 |
R4438:Snx19
|
UTSW |
9 |
30,339,895 (GRCm39) |
missense |
probably benign |
0.01 |
R4484:Snx19
|
UTSW |
9 |
30,339,192 (GRCm39) |
missense |
probably benign |
0.01 |
R4585:Snx19
|
UTSW |
9 |
30,351,491 (GRCm39) |
missense |
probably damaging |
1.00 |
R4765:Snx19
|
UTSW |
9 |
30,351,453 (GRCm39) |
missense |
probably damaging |
1.00 |
R4771:Snx19
|
UTSW |
9 |
30,344,934 (GRCm39) |
missense |
probably damaging |
1.00 |
R4922:Snx19
|
UTSW |
9 |
30,348,763 (GRCm39) |
missense |
probably benign |
0.25 |
R5096:Snx19
|
UTSW |
9 |
30,340,082 (GRCm39) |
missense |
probably benign |
0.40 |
R5464:Snx19
|
UTSW |
9 |
30,339,269 (GRCm39) |
missense |
possibly damaging |
0.54 |
R6469:Snx19
|
UTSW |
9 |
30,339,039 (GRCm39) |
missense |
possibly damaging |
0.50 |
R6886:Snx19
|
UTSW |
9 |
30,340,231 (GRCm39) |
missense |
probably damaging |
1.00 |
R6988:Snx19
|
UTSW |
9 |
30,340,231 (GRCm39) |
missense |
probably damaging |
1.00 |
R7131:Snx19
|
UTSW |
9 |
30,339,189 (GRCm39) |
missense |
probably damaging |
1.00 |
R7268:Snx19
|
UTSW |
9 |
30,351,473 (GRCm39) |
missense |
probably damaging |
1.00 |
R7772:Snx19
|
UTSW |
9 |
30,340,221 (GRCm39) |
missense |
probably damaging |
0.99 |
R8087:Snx19
|
UTSW |
9 |
30,375,698 (GRCm39) |
missense |
probably benign |
|
R8211:Snx19
|
UTSW |
9 |
30,348,761 (GRCm39) |
missense |
probably benign |
|
R8283:Snx19
|
UTSW |
9 |
30,374,522 (GRCm39) |
missense |
possibly damaging |
0.56 |
R9000:Snx19
|
UTSW |
9 |
30,375,619 (GRCm39) |
missense |
unknown |
|
R9383:Snx19
|
UTSW |
9 |
30,347,196 (GRCm39) |
missense |
probably damaging |
1.00 |
R9436:Snx19
|
UTSW |
9 |
30,374,602 (GRCm39) |
missense |
possibly damaging |
0.55 |
R9782:Snx19
|
UTSW |
9 |
30,340,172 (GRCm39) |
missense |
probably benign |
0.00 |
X0019:Snx19
|
UTSW |
9 |
30,348,662 (GRCm39) |
missense |
probably damaging |
1.00 |
X0024:Snx19
|
UTSW |
9 |
30,339,017 (GRCm39) |
missense |
probably benign |
0.04 |
|
Posted On |
2016-08-02 |